Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ann E. Frazier"'
Autor:
David R. Thorburn, Yilin Kang, Kenji M Fujihara, Catherine S Palmer, Yau C Low, Ann E. Frazier, Nicholas J. Clemons, Daniella H Hock, David A. Stroud, Thomas Daniel Jackson, Diana Stojanovski, Ching-Seng Ang
Publikováno v:
Molecular Biology of the Cell
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that contributes to protein biogenesis as a subunit of the TIM22 complex at the inner mitochondrial membrane. Mutations in AGK cause Sengers syndrome, an autosomal recessive condition characte
Publikováno v:
Mol Cell Biol
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by defects in the skeletal system, such as bone hypoplasia, short stature, low bone mass, and an increased incidence of osteosarcoma. RTS type 2 patients have germ line
Autor:
Alexander J Anderson, Nicholas J. Clemons, Yilin Kang, David P De Souza, Tegan Stait, Malcolm J. McConville, Diana Stojanovski, David A. Stroud, Kenji M Fujihara, Thomas Daniel Jackson, David R. Thorburn, Michael T. Ryan, Deidreia Tull, Catherine S Palmer, Ann E. Frazier
Publikováno v:
eLife
eLife, Vol 8 (2019)
eLife, Vol 8 (2019)
Human Tim8a and Tim8b are members of an intermembrane space chaperone network, known as the small TIM family. Mutations in TIMM8A cause a neurodegenerative disease, Mohr-Tranebjærg syndrome (MTS), which is characterised by sensorineural hearing loss
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 7730, p 7730 (2021)
International Journal of Molecular Sciences, Vol 22, Iss 7730, p 7730 (2021)
Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are both clinically and genetically heterogeneous, and can be highly ti
Publikováno v:
Brain : a journal of neurology. 140(11)
Autor:
Elliot Surgenor, David A. Stroud, Caroline Lindau, F-Nora Vögtle, Silke Oeljeklaus, Matteo Bonas, Ann E. Frazier, Megan J. Maher, Bettina Warscheid, Hayley S. Mountford, David R. Thorburn, Abeer P. Singh, Chris Meisinger, Michael T. Ryan
Publikováno v:
Human molecular genetics. 24(19)
Biogenesis of complex IV of the mitochondrial respiratory chain requires assembly factors for subunit maturation, co-factor attachment and stabilization of intermediate assemblies. A pathogenic mutation in COA6, leading to substitution of a conserved
Autor:
Matthew J. Bird, Jasper C. Komen, David R. Thorburn, Xiaonan W. Wijeyeratne, Ann E. Frazier, Michael T. Ryan, Adrienne Laskowski
Publikováno v:
Bioscience Reports
Bioscience Reports, Vol 34, Iss 6, p e00151 (2014)
Bioscience Reports, Vol 34, Iss 6, p e00151 (2014)
Mitochondrial dysfunction causes a range of early-onset neurological diseases and contributes to neurodegenerative conditions. The mechanisms of neurological damage however are poorly understood, as accessing relevant tissue from patients is difficul
Autor:
Zoe M. Smith, Laura J. Gray, Anthony J. Hannan, Paul S. Francis, Thibault Renoir, Ann E. Frazier, Dean J. Wright, Sean L. McGee, David R. Thorburn
Publikováno v:
Translational Psychiatry
Huntington's disease (HD) is a neurodegenerative disorder, involving psychiatric, cognitive and motor symptoms, caused by a CAG-repeat expansion encoding an extended polyglutamine tract in the huntingtin protein. Oxidative stress and excitotoxicity h
Autor:
Nadine Stoepel, David U. Mick, Rebecca D. Taylor, Bernard Guiard, Ann E. Frazier, Bettina Warscheid, Peter Rehling, Michael T. Ryan, Helmut E. Meyer
Publikováno v:
Journal of Cell Biology
Journal of Cell Biology, Rockefeller University Press, 2006, 172 (4), pp.553-64. ⟨10.1083/jcb.200505060⟩
The Journal of Cell Biology
ResearcherID
Journal of Cell Biology, Rockefeller University Press, 2006, 172 (4), pp.553-64. ⟨10.1083/jcb.200505060⟩
The Journal of Cell Biology
ResearcherID
Saccharomyces cerevisiae Mdm38 and Ylh47 are homologues of human Letm1, a protein implicated in Wolf-Hirschhorn syndrome. We analyzed the function of Mdm38 and Ylh47 in yeast mitochondria to gain insight into the role of Letm1. We find that mdm38Δ m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887ab0508c7ee4946b68558dfcdc2e19
https://hal.archives-ouvertes.fr/hal-00132197
https://hal.archives-ouvertes.fr/hal-00132197